Mutagenetix > Incidental Mutation

Incidental Mutation 'R2079:Ankle2'

229332

Institutional Source

Beutler Lab

Gene Symbol

Ankle2

Ensembl Gene

ENSMUSG00000029501

Gene Name

ankyrin repeat and LEM domain containing 2

Synonyms

1110001J12Rik, D5Ertd585e

MMRRC Submission

040084-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R2079 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110378870-110404517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110392371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 459 (V459A)

Ref Sequence

ENSEMBL: ENSMUSP00000031474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031474] [ENSMUST00000086674] [ENSMUST00000197188]

AlphaFold

Q6P1H6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031474
AA Change: V459A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031474
Gene: ENSMUSG00000029501
AA Change: V459A

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
Pfam:LEM	74	112	6.6e-12	PFAM
ANK	358	387	7.75e2	SMART
ANK	419	448	3.31e-1	SMART
low complexity region	923	937	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000086674
AA Change: V460A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000083878
Gene: ENSMUSG00000029501
AA Change: V460A

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
Pfam:LEM	75	114	5.8e-9	PFAM
ANK	358	387	7.75e2	SMART
ANK	419	448	3.31e-1	SMART
low complexity region	845	859	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000197188
AA Change: V460A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143044
Gene: ENSMUSG00000029501
AA Change: V460A

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
Pfam:LEM	75	114	6.4e-9	PFAM
ANK	358	387	7.75e2	SMART
ANK	419	448	3.31e-1	SMART
low complexity region	923	937	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	A	T	13: 104,598,746 (GRCm39)	R862S	probably benign	Het
Aldoa	T	C	7: 126,396,076 (GRCm39)	D164G	probably null	Het
Atp11a	A	G	8: 12,907,902 (GRCm39)	Y482C	probably damaging	Het
BC035947	A	G	1: 78,488,561 (GRCm39)		probably benign	Het
Cfap65	G	A	1: 74,956,358 (GRCm39)	R1074C	probably benign	Het
Ciart	G	T	3: 95,786,350 (GRCm39)	H242N	probably damaging	Het
Cidec	T	A	6: 113,402,615 (GRCm39)	M220L	probably benign	Het
Clca3a1	A	G	3: 144,713,534 (GRCm39)	I699T	possibly damaging	Het
Csf2rb2	T	C	15: 78,172,207 (GRCm39)	D401G	probably benign	Het
Cyp2j6	C	A	4: 96,419,962 (GRCm39)	L256F	possibly damaging	Het
Ddr2	A	T	1: 169,832,345 (GRCm39)	Y148*	probably null	Het
Depdc5	T	A	5: 33,104,018 (GRCm39)	I373N	possibly damaging	Het
Dpp10	A	T	1: 123,360,721 (GRCm39)	M268K	probably damaging	Het
Fam118b	C	A	9: 35,134,960 (GRCm39)	V216F	possibly damaging	Het
Fancd2	T	C	6: 113,532,148 (GRCm39)	V487A	probably damaging	Het
Fhad1	T	A	4: 141,718,513 (GRCm39)	R147*	probably null	Het
Flt3	A	G	5: 147,291,893 (GRCm39)	S544P	probably damaging	Het
Frem3	C	A	8: 81,341,732 (GRCm39)	Q1342K	probably benign	Het
Garin3	T	G	11: 46,295,934 (GRCm39)	V102G	probably benign	Het
Gimap4	T	C	6: 48,667,881 (GRCm39)	M84T	possibly damaging	Het
Gm20481	T	C	17: 35,189,196 (GRCm39)	K569R	probably benign	Het
Gm4871	A	C	5: 144,966,741 (GRCm39)	D247E	possibly damaging	Het
Gm5141	A	T	13: 62,922,424 (GRCm39)	N248K	probably benign	Het
Gulo	A	G	14: 66,227,832 (GRCm39)	Y367H	probably damaging	Het
Hap1	T	C	11: 100,244,572 (GRCm39)	E120G	probably damaging	Het
Heatr3	T	A	8: 88,868,404 (GRCm39)	N51K	probably damaging	Het
Hipk2	T	C	6: 38,795,720 (GRCm39)	D183G	probably damaging	Het
Hnrnpll	T	A	17: 80,342,806 (GRCm39)	T439S	probably benign	Het
Hoxd3	A	C	2: 74,574,610 (GRCm39)	E85D	probably damaging	Het
Ipo8	A	T	6: 148,690,660 (GRCm39)	M694K	probably damaging	Het
Jag2	A	G	12: 112,883,997 (GRCm39)	I194T	probably damaging	Het
Jrkl	A	T	9: 13,244,864 (GRCm39)	F266I	probably damaging	Het
Kcnt1	A	G	2: 25,790,260 (GRCm39)	I436V	possibly damaging	Het
Kdm3b	A	T	18: 34,936,570 (GRCm39)	D284V	probably damaging	Het
Khdrbs2	A	G	1: 32,506,955 (GRCm39)	T200A	probably benign	Het
Kmt2c	T	C	5: 25,557,278 (GRCm39)	D1143G	possibly damaging	Het
Kremen1	G	GGGGT	11: 5,151,794 (GRCm39)		probably null	Het
Lama2	A	C	10: 27,245,049 (GRCm39)	I244S	probably damaging	Het
Lama5	G	A	2: 179,867,301 (GRCm39)	P99S	possibly damaging	Het
Lrrc30	A	T	17: 67,938,875 (GRCm39)	L235Q	possibly damaging	Het
Man2b2	C	T	5: 36,971,716 (GRCm39)	V667M	possibly damaging	Het
Mmp2	T	A	8: 93,576,817 (GRCm39)	N77K	probably damaging	Het
Myo1a	A	G	10: 127,556,482 (GRCm39)	E1009G	probably benign	Het
Ndst1	A	G	18: 60,828,581 (GRCm39)	Y658H	probably damaging	Het
Nlrp10	A	G	7: 108,524,835 (GRCm39)	L215P	possibly damaging	Het
Nrbp1	T	C	5: 31,408,417 (GRCm39)	F526L	probably benign	Het
Or10p21	T	C	10: 128,847,898 (GRCm39)	V248A	probably damaging	Het
Or51t4	T	A	7: 102,598,702 (GRCm39)	F333L	probably benign	Het
Padi2	T	C	4: 140,660,507 (GRCm39)	L329P	probably damaging	Het
Pcdhb20	A	G	18: 37,638,224 (GRCm39)	Q250R	probably benign	Het
Pcdhb3	T	A	18: 37,436,362 (GRCm39)	L776Q	possibly damaging	Het
Pik3cb	A	T	9: 98,942,257 (GRCm39)	M700K	probably benign	Het
Pla2g6	C	T	15: 79,197,194 (GRCm39)	V127M	probably damaging	Het
Rabgef1	T	C	5: 130,219,776 (GRCm39)	S80P	probably damaging	Het
Sema3a	C	T	5: 13,501,098 (GRCm39)	T47I	possibly damaging	Het
Sik2	C	T	9: 50,818,706 (GRCm39)		probably null	Het
Sin3a	T	C	9: 56,996,807 (GRCm39)	V112A	probably benign	Het
Slc26a6	G	A	9: 108,736,257 (GRCm39)	A472T	probably damaging	Het
Syne1	A	G	10: 5,311,502 (GRCm39)	V561A	probably benign	Het
Syt16	C	T	12: 74,285,073 (GRCm39)	T422I	probably damaging	Het
Tlr11	A	T	14: 50,598,437 (GRCm39)	H141L	probably damaging	Het
Tmem252	A	T	19: 24,655,017 (GRCm39)	E131D	probably benign	Het
Trim55	T	G	3: 19,698,830 (GRCm39)	L20V	probably damaging	Het
Uqcrfs1	A	T	13: 30,725,291 (GRCm39)	V83D	probably benign	Het
Utf1	C	T	7: 139,524,808 (GRCm39)	R309*	probably null	Het
Uxs1	T	C	1: 43,804,133 (GRCm39)	T261A	probably damaging	Het
Vmn1r24	T	C	6: 57,932,655 (GRCm39)	I288V	probably benign	Het
Vmn1r80	A	T	7: 11,927,121 (GRCm39)	D77V	probably damaging	Het
Vmn2r74	T	G	7: 85,606,383 (GRCm39)	H321P	probably benign	Het
Zfp638	T	C	6: 83,930,371 (GRCm39)		probably null	Het
Zwilch	T	A	9: 64,060,856 (GRCm39)	Q332L	probably damaging	Het
Zwilch	G	T	9: 64,060,857 (GRCm39)	Q332K	probably damaging	Het

Other mutations in Ankle2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01312:Ankle2	APN	5	110,382,218 (GRCm39)	missense	probably benign	0.01
IGL03030:Ankle2	APN	5	110,399,476 (GRCm39)	missense	possibly damaging	0.93
R0107:Ankle2	UTSW	5	110,400,893 (GRCm39)	missense	probably benign
R0219:Ankle2	UTSW	5	110,399,511 (GRCm39)	nonsense	probably null
R0288:Ankle2	UTSW	5	110,384,256 (GRCm39)	missense	probably damaging	0.96
R0511:Ankle2	UTSW	5	110,389,925 (GRCm39)	splice site	probably benign
R1343:Ankle2	UTSW	5	110,385,832 (GRCm39)	missense	probably damaging	1.00
R3954:Ankle2	UTSW	5	110,399,541 (GRCm39)	missense	probably benign	0.00
R4161:Ankle2	UTSW	5	110,382,234 (GRCm39)	missense	probably benign	0.06
R4196:Ankle2	UTSW	5	110,392,409 (GRCm39)	missense	possibly damaging	0.81
R4613:Ankle2	UTSW	5	110,379,245 (GRCm39)	missense	probably benign
R4830:Ankle2	UTSW	5	110,389,879 (GRCm39)	missense	probably damaging	1.00
R4870:Ankle2	UTSW	5	110,399,344 (GRCm39)	splice site	probably null
R4946:Ankle2	UTSW	5	110,401,704 (GRCm39)	missense	probably benign	0.06
R5537:Ankle2	UTSW	5	110,397,361 (GRCm39)	missense	probably damaging	1.00
R5798:Ankle2	UTSW	5	110,399,401 (GRCm39)	missense	probably damaging	1.00
R5809:Ankle2	UTSW	5	110,385,856 (GRCm39)	missense	probably damaging	0.99
R6434:Ankle2	UTSW	5	110,401,759 (GRCm39)	missense	probably damaging	1.00
R6825:Ankle2	UTSW	5	110,398,635 (GRCm39)	missense	probably null	0.78
R7264:Ankle2	UTSW	5	110,385,689 (GRCm39)	missense	probably damaging	1.00
R7296:Ankle2	UTSW	5	110,385,590 (GRCm39)	missense	probably damaging	1.00
R7318:Ankle2	UTSW	5	110,385,632 (GRCm39)	missense	probably benign	0.19
R7429:Ankle2	UTSW	5	110,382,384 (GRCm39)	missense	possibly damaging	0.86
R8035:Ankle2	UTSW	5	110,402,318 (GRCm39)	missense	probably damaging	1.00
R8079:Ankle2	UTSW	5	110,379,182 (GRCm39)	missense	probably damaging	1.00
R8257:Ankle2	UTSW	5	110,401,781 (GRCm39)	critical splice donor site	probably null
R8348:Ankle2	UTSW	5	110,389,909 (GRCm39)	missense	possibly damaging	0.68
R8448:Ankle2	UTSW	5	110,389,909 (GRCm39)	missense	possibly damaging	0.68
R8478:Ankle2	UTSW	5	110,400,818 (GRCm39)	missense	possibly damaging	0.92
R8957:Ankle2	UTSW	5	110,379,121 (GRCm39)	missense	possibly damaging	0.95
R9186:Ankle2	UTSW	5	110,400,610 (GRCm39)	missense	possibly damaging	0.94
R9187:Ankle2	UTSW	5	110,400,610 (GRCm39)	missense	possibly damaging	0.94
R9188:Ankle2	UTSW	5	110,400,610 (GRCm39)	missense	possibly damaging	0.94
R9189:Ankle2	UTSW	5	110,400,610 (GRCm39)	missense	possibly damaging	0.94
R9617:Ankle2	UTSW	5	110,399,409 (GRCm39)	missense	probably damaging	1.00
R9651:Ankle2	UTSW	5	110,385,661 (GRCm39)	missense	probably benign	0.04
X0026:Ankle2	UTSW	5	110,400,986 (GRCm39)	missense	probably benign	0.01
X0065:Ankle2	UTSW	5	110,384,223 (GRCm39)	missense	probably damaging	0.99
Z1176:Ankle2	UTSW	5	110,382,365 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- ACAGGTTTTCCGAGTGTGAG -3'
(R):5'- AGTCCCTGAGCAGCAATCAAG -3'

Sequencing Primer
(F):5'- AGGCACACCTCTGAATCTGAGG -3'
(R):5'- GTCCCTGAGCAGCAATCAAGTAAAAG -3'

Posted On

2014-09-17